ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3462T>G (p.Ser1154Arg) (rs769100283)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483693 SCV000574190 uncertain significance not provided 2017-03-21 criteria provided, single submitter clinical testing The S1154R variant in the COL3A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S1154R variant is observed in 5/15796 (0.03%) alleles from individuals of South Asian background, in large population cohorts. The S1154R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (G1158R, G1158D) have been reported in the Human Gene Mutation Database in association with COL3A1-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret S1154R as a variant of uncertain significance.
GenomeConnect, ClinGen RCV000844918 SCV000986725 not provided Ehlers-Danlos syndrome, type 4; Ehlers-Danlos syndrome, type 3 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 03/28/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.